Document title
Latent coeliac disease in a child with epilepsy, cerebral calcifications, drug-induced systemic lupus erythematosus and intestinal folic acid malabsorption associated with impairment of folic acid transport across the blood-brain barrier
Author(s)
CALVANI M. JR (1) ; PARISI P. (1) ; GUAITOLINI C. (2) ; PARISI G. (3) ; PAOLONE G. (1) ;
Affiliation(s) Author(s) Affiliation(s)
(1) Division of Paediatrics, San Camillo De Lellis Hospital, Rome, ITALIE
(2) Clinical Chemistry Laboratory, San Camillo De Lellis Hospital, Rome, ITALIE
(3) Microbiology Laboratory, San Camillo De Lellis Hospital, Rome,
Abstract
A 15-year-old boy with epilepsy and cerebral calcifications, treated with valproic acid, ethyl phenylbarbiturate and ethosuximide, was referred for drug induced systemic lupus erythematosus. Anti-gliadin (AGA) and anti-endomysium (EMA) antibody tests were both positive (EMA titre 1:50). Endoscopic duodenal biopsy showed intense chronic inflammation without villous atrophy or crypt hyperplasia. The child was discharged with a gluten-containing diet. The follow-up showed an increase in EMA titre (1:200) and the persistence of AGA. After 15 months, a second endoscopic intestinal biopsy showed flat mucosa and villous atrophy. Three serum folic acid determinations showed 1.8, 2.4, 2.0 ng/ml (reference range 2.5-16.9 ng/ml) prior to the two intestinal biopsies, but returned to normal levels (11.8 ng/ml) after a gluten-free diet and oral supplementation together. Two years later, the frequency of epileptic seizures was unchanged despite ongoing anti-epileptic treatment and a gluten-free diet. As cerebral calcification and epilepsy are reminiscent of the findings in congenital folate malabsorption, oral loading tests with 5 mg folic acid were carried out and showed impaired intestinal absorption and a defect in the transport across the blood-brain barrier. Low CSF folate levels (13.9 and 12.6 ng/ml, reference range 15-40 ng/ml) and an alteration in the CSF/serum folate ratio (1.43 and 1.16, normal ratio 3:1) were also found as well as increased levels of cystathionine both in CSF (40 μmol/l, reference range 18-28 μmol/l) and in serum (32 μmol/l, reference value <0.10 μmol/l). Conclusion Impairment of intestinal folic acid absorption with a defect in folic acid transport across the blood-brain barrier has been demonstrated in a case of epilepsy and cerebral calcifications associated with coeliac disease.
Journal Title
European journal of pediatrics ISSN 0340-6199 CODEN EJPEDT
Source
2001, vol. 160, no5, pp. 288-292 (27 ref.)
Language
Publisher
Springer, Berlin, ALLEMAGNE (1975) (Revue)
English Keywords
Coeliac disease ; Child ; Case study ; Epilepsy ; Cerebral disorder ; Calcification ; Lupus erythematosus ; Disseminated ; Folic acid ; Valproic acid ; Human ; Digestive diseases ; Intestinal disease ; Intestinal malabsorption ; Immunopathology ; Nervous system diseases ; Central nervous system disease ; Skin disease ; Connective tissue disease ; Systemic disease ; Autoimmune disease ;
